Canonical Allele Identifier: PA2825068318
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2189402
ClinVar RCV Id: RCV002607330
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000147.1:p.Leu53Arg
CA402998040
NM_000156.6:c.158T>G
CA2580096090
NM_000156.6:c.157_158delinsAG